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Bi-allelic NIT1 variants cause a brain small vessel disease characterized by movement disorders, massively dilated perivascular spaces, and intracerebral hemorrhage.
Rutten JW, Cerfontaine MN, Dijkstra KL, Mulder AA, Vreijling J, Kruit M, Koning RI, de Bot ST, van Nieuwenhuizen KM, Baelde HJ, Berendse HW, Mei LH, Ruijter GJG, Baas F, Jost CR, van Duinen SG, Nibbeling EAR, Gravesteijn G, Lesnik Oberstein SAJ. Rutten JW, et al. Among authors: lesnik oberstein saj. Genet Med. 2024 Feb 27;26(6):101105. doi: 10.1016/j.gim.2024.101105. Online ahead of print. Genet Med. 2024. PMID: 38430071 Free article.
Evaluation of diagnostic NOTCH3 immunostaining in CADASIL.
Lesnik Oberstein SA, van Duinen SG, van den Boom R, Maat-Schieman ML, van Buchem MA, van Houwelingen HC, Hegeman-Kleinn IM, Ferrari MD, Breuning MH, Haan J. Lesnik Oberstein SA, et al. Acta Neuropathol. 2003 Aug;106(2):107-11. doi: 10.1007/s00401-003-0701-6. Epub 2003 May 17. Acta Neuropathol. 2003. PMID: 12756589
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA. Rutten JW, et al. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Rutten JW, et al. Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880. Expert Rev Mol Diagn. 2014. PMID: 24844136 Review.
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
Rutten JW, Klever RR, Hegeman IM, Poole DS, Dauwerse HG, Broos LA, Breukel C, Aartsma-Rus AM, Verbeek JS, van der Weerd L, van Duinen SG, van den Maagdenberg AM, Lesnik Oberstein SA. Rutten JW, et al. Acta Neuropathol Commun. 2015 Dec 29;3:89. doi: 10.1186/s40478-015-0268-1. Acta Neuropathol Commun. 2015. PMID: 26715087 Free PMC article.
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM, Bernal-Quiros M, Lesnik Oberstein SA. Rutten JW, et al. Ann Clin Transl Neurol. 2016 Sep 28;3(11):844-853. doi: 10.1002/acn3.344. eCollection 2016 Nov. Ann Clin Transl Neurol. 2016. PMID: 27844030 Free PMC article.
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